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Rigshospitalet - en del af Københavns Universitetshospital
E-pub ahead of print

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

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DOI

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  • Wen-Qiang Zheng
  • Signe Vandal Pedersen
  • Kyle Thompson
  • Emanuele Bellacchio
  • Courtney E French
  • Benjamin Munro
  • Toni S Pearson
  • Julie Vogt
  • Daria Diodato
  • Tue Diemer
  • Anja Ernst
  • Rita Horvath
  • Manali Chitre
  • Jakob Ek
  • Flemming Wibrand
  • Dorothy K Grange
  • Lucy Raymond
  • Xiao-Long Zhou
  • Robert W Taylor
  • Elsebet Ostergaard
Vis graf over relationer

TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here report five additional unrelated patients with TARS2-related mitochondrial diseases, expanding the clinical phenotype to also include epilepsy, dystonia, hyperhidrosis and severe hearing impairment. Additionally, we document seven novel TARS2 variants-one nonsense variant and six missense variants-that we demonstrate are pathogenic and causal of the disease presentation based on population frequency, homology modelling and functional studies that show the effects of the pathogenic variants on TARS2 stability and/or function.

OriginalsprogEngelsk
TidsskriftHuman Molecular Genetics
ISSN0964-6906
DOI
StatusE-pub ahead of print - 11 sep. 2021

Bibliografisk note

© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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